What is Schwannomatosis?

Schwannomatosis is a neurogenetic syndrome characterized predominantly by multiple, often painful, schwannomas estimated to affect 1 in 40,000 people. Schwannomas can grow along the nerves of the head and spine, as well as along the nerves that run throughout the body.Schwannomas originate in the insulating covering of peripheral nerves called the nerve sheath. Schwannomas are very homogenous tumors consisting only of nerve sheath cells or Schwann cells. They stay on the outside of the nerve, but may push it aside or against a bony structure causing damage.

People with schwannomatosis develop multiple schwannomas on cranial, spinal and peripheral nerves—but they do not develop vestibular tumors and do not go deaf. They also do not develop any other kinds of tumors (for example, meningiomas, ependymomas or astrocytomas) and do not have learning disabilities. People with schwannomatosis have problems with chronic pain that often exceeds their neurological problems. The first symptom of schwannomatosis is almost always pain, which can occur in any part of the body. Many patients with schwannomatosis go several years before the source of their pain is realized because they have few or no neurological symptoms. However, given the increasing understanding about the heterogeneity of the expression of the phenotype, the true incidence is unknown.

To date, there has been very limited research focused on schwannomatosis, in part because it is considered a rare disease and in part because there are limited resources. A major obstacle to the advancement of schwannomatosis research is locating enough patients to collect meaningful data. By connecting researchers with patients who have undergone basic screening and expressed a desire to take part in research, the International Schwannomatosis Database hopes to accelerate the understanding of schwannomatosis and the identification of effective management and treatment strategies.